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2 Journal of Applied Genetics

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Supernumerary marker chromosomes characterized by fluorescence in situ hybridization [FISH]

100%

Bocian E. , Stankiewicz P. , Stanczak H. , Obersztyn E. , Korniszewski L. , Mazurczak T.

Journal of Applied Genetics

1996

tom 37

nr 3

Until recently marker chromosomes have presented a difficult diagnostic problem for cytogeneticists as well as for clinicians. Introduction of FISH to cytogenetic analysis has enabled identification of their origin giving possibility to outline specific phenotypic effects of defined marker chromosomes. Nine marker chromosomes were analysed with FISH using centromeric probes, chromosome- specific libraries and unique DNA sequences probes for PWS/AS critical region. The origin from acrocentric chromosomes was established in 6 cases. One marker was a product of maternal 11;22 translocation and two others were pericentromeric regions of chromosome 2 and 4. Among 6 markers, derived from acrocentric chromosomes, 2 consisted of pericentromeric part of chromosome 15, one was identified as mar (21) and in 3 other cases the origin could not be differentiated between chromosomes 13 and 21 or 14 and 22. Clinical consequences of marker chromosomes including the risk for chromosomal nondisjunction and trisomy 21 as well as the risk for uniparental disomy (UPD) are discussed.

Infertility and marker chromosomes: Application of molecular cytogenetic techniques in a case of inv dupp.89-91,fig.,ref.

86%

Vulcani-Freitas T. M. , Gil-da-Silva-Lopes V. L. , Varella-Garcia M. , Maciel-Guerra A. T.

Journal of Applied Genetics

2006

tom 47

nr 1

We report on a phenotypically normal man with infertility, whose 47,XY,+mar karyotype was studied by spectral karyotyping (SKY) and fluorescence in situ hybridization (FISH) using a chromosome-15-specific probe (LSI SNRPN). By these techniques, the marker chromosome was identified as a small inv dup (15). Possible causes for male infertility in this case are discussed.